Incidental Mutation 'R5801:D5Ertd579e'
| ID |
448334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D5Ertd579e
|
| Ensembl Gene |
ENSMUSG00000029190 |
| Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
| Synonyms |
9030221A05Rik, A930018H20Rik |
| MMRRC Submission |
043390-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R5801 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36761913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1318
(E1318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031091
AA Change: E1318G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: E1318G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132383
|
| SMART Domains |
Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
1 |
1181 |
N/A |
PFAM |
|
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
| Meta Mutation Damage Score |
0.0777 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
| Adam15 |
C |
T |
3: 89,249,668 (GRCm39) |
V667I |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,038,775 (GRCm39) |
S912G |
probably damaging |
Het |
| Adamts20 |
C |
A |
15: 94,245,551 (GRCm39) |
E584* |
probably null |
Het |
| Ago3 |
A |
T |
4: 126,265,561 (GRCm39) |
N284K |
possibly damaging |
Het |
| Alx3 |
T |
A |
3: 107,512,257 (GRCm39) |
Y298* |
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,167,084 (GRCm39) |
I574V |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,694,299 (GRCm39) |
D400G |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,484,281 (GRCm39) |
H525L |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,778,523 (GRCm39) |
E674G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,970,863 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,428,641 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
A |
G |
9: 105,825,566 (GRCm39) |
V9A |
unknown |
Het |
| Cpsf7 |
A |
T |
19: 10,516,996 (GRCm39) |
D366V |
probably benign |
Het |
| Cuedc2 |
T |
C |
19: 46,319,796 (GRCm39) |
E173G |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,704,560 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
T |
A |
1: 138,967,727 (GRCm39) |
|
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,424,723 (GRCm39) |
T111A |
probably benign |
Het |
| Edn1 |
C |
A |
13: 42,460,282 (GRCm39) |
A179E |
probably benign |
Het |
| Eif2b1 |
T |
C |
5: 124,712,775 (GRCm39) |
|
probably null |
Het |
| Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
| Erc1 |
T |
A |
6: 119,750,783 (GRCm39) |
N466I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,590,228 (GRCm39) |
F825L |
probably damaging |
Het |
| Fbh1 |
T |
C |
2: 11,774,637 (GRCm39) |
D36G |
probably damaging |
Het |
| Fbxo41 |
G |
T |
6: 85,461,515 (GRCm39) |
F64L |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,312,216 (GRCm39) |
S14P |
probably benign |
Het |
| Gm6505 |
A |
T |
3: 28,819,116 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-18 |
T |
A |
12: 114,646,328 (GRCm39) |
D91V |
probably damaging |
Het |
| Imp3 |
A |
G |
9: 56,845,086 (GRCm39) |
D99G |
probably benign |
Het |
| Iqub |
T |
C |
6: 24,449,768 (GRCm39) |
K699R |
probably benign |
Het |
| Itpk1 |
A |
G |
12: 102,540,204 (GRCm39) |
V293A |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
| Mapk1ip1 |
T |
A |
7: 138,438,239 (GRCm39) |
T64S |
possibly damaging |
Het |
| Mrpl9 |
T |
C |
3: 94,355,103 (GRCm39) |
L225P |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,279,150 (GRCm39) |
L1136S |
possibly damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,279,246 (GRCm39) |
I1104K |
possibly damaging |
Het |
| Nkain2 |
T |
C |
10: 32,278,264 (GRCm39) |
T54A |
probably damaging |
Het |
| Ociad2 |
A |
G |
5: 73,483,642 (GRCm39) |
F60S |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,772 (GRCm39) |
F113L |
probably benign |
Het |
| Polk |
T |
A |
13: 96,620,094 (GRCm39) |
H723L |
probably damaging |
Het |
| Prickle4 |
C |
A |
17: 47,999,698 (GRCm39) |
R285L |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,473,672 (GRCm39) |
N121S |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,582 (GRCm39) |
S1212C |
probably damaging |
Het |
| Rasgef1c |
T |
G |
11: 49,860,883 (GRCm39) |
M266R |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,181,369 (GRCm39) |
E155G |
possibly damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,831,703 (GRCm39) |
S155P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,103 (GRCm39) |
Y991C |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 44,006,240 (GRCm39) |
E1986K |
possibly damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,149 (GRCm39) |
F482L |
probably benign |
Het |
| Slc35e3 |
T |
A |
10: 117,581,767 (GRCm39) |
M109L |
probably benign |
Het |
| Slco4c1 |
T |
C |
1: 96,799,809 (GRCm39) |
N9S |
probably damaging |
Het |
| Slco6b1 |
C |
T |
1: 96,875,356 (GRCm39) |
|
noncoding transcript |
Het |
| Sptan1 |
A |
G |
2: 29,920,613 (GRCm39) |
|
probably null |
Het |
| Sptlc2 |
T |
C |
12: 87,388,545 (GRCm39) |
|
probably null |
Het |
| Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
| Strip1 |
A |
C |
3: 107,528,757 (GRCm39) |
L391R |
possibly damaging |
Het |
| Tacr1 |
T |
A |
6: 82,534,134 (GRCm39) |
S387T |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,908,125 (GRCm39) |
F213I |
probably damaging |
Het |
| Thbs3 |
A |
T |
3: 89,131,704 (GRCm39) |
Y692F |
probably benign |
Het |
| Tktl2 |
C |
A |
8: 66,966,299 (GRCm39) |
A619E |
probably benign |
Het |
| Tmc3 |
A |
T |
7: 83,271,686 (GRCm39) |
E946V |
possibly damaging |
Het |
| Tmem132d |
A |
G |
5: 127,861,964 (GRCm39) |
V719A |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,968,302 (GRCm39) |
H488R |
probably damaging |
Het |
| Tsfm |
TCACTCC |
TCACTCCACTCC |
10: 126,858,706 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
A |
G |
12: 9,056,723 (GRCm39) |
T503A |
possibly damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,126 (GRCm39) |
K436E |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,585,990 (GRCm39) |
Y78H |
probably damaging |
Het |
| Zfp970 |
A |
G |
2: 177,165,151 (GRCm39) |
K26E |
probably damaging |
Het |
|
| Other mutations in D5Ertd579e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:D5Ertd579e
|
APN |
5 |
36,776,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01925:D5Ertd579e
|
APN |
5 |
36,771,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01933:D5Ertd579e
|
APN |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,772,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:D5Ertd579e
|
APN |
5 |
36,773,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:D5Ertd579e
|
APN |
5 |
36,771,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03141:D5Ertd579e
|
APN |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03235:D5Ertd579e
|
APN |
5 |
36,776,172 (GRCm39) |
splice site |
probably benign |
|
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,773,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:D5Ertd579e
|
UTSW |
5 |
36,761,911 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0830:D5Ertd579e
|
UTSW |
5 |
36,771,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:D5Ertd579e
|
UTSW |
5 |
36,830,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:D5Ertd579e
|
UTSW |
5 |
36,771,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:D5Ertd579e
|
UTSW |
5 |
36,760,083 (GRCm39) |
missense |
probably benign |
|
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1676:D5Ertd579e
|
UTSW |
5 |
36,773,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1693:D5Ertd579e
|
UTSW |
5 |
36,771,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1698:D5Ertd579e
|
UTSW |
5 |
36,761,874 (GRCm39) |
missense |
probably benign |
|
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,773,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2034:D5Ertd579e
|
UTSW |
5 |
36,770,882 (GRCm39) |
nonsense |
probably null |
|
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,773,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2105:D5Ertd579e
|
UTSW |
5 |
36,770,793 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2197:D5Ertd579e
|
UTSW |
5 |
36,772,137 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4212:D5Ertd579e
|
UTSW |
5 |
36,771,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4452:D5Ertd579e
|
UTSW |
5 |
36,773,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:D5Ertd579e
|
UTSW |
5 |
36,771,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4804:D5Ertd579e
|
UTSW |
5 |
36,786,996 (GRCm39) |
splice site |
probably null |
|
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,772,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4917:D5Ertd579e
|
UTSW |
5 |
36,773,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:D5Ertd579e
|
UTSW |
5 |
36,773,571 (GRCm39) |
nonsense |
probably null |
|
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,830,249 (GRCm39) |
missense |
probably benign |
|
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,760,047 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5474:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5477:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:D5Ertd579e
|
UTSW |
5 |
36,787,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6184:D5Ertd579e
|
UTSW |
5 |
36,787,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6213:D5Ertd579e
|
UTSW |
5 |
36,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:D5Ertd579e
|
UTSW |
5 |
36,772,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6276:D5Ertd579e
|
UTSW |
5 |
36,761,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6285:D5Ertd579e
|
UTSW |
5 |
36,772,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:D5Ertd579e
|
UTSW |
5 |
36,773,580 (GRCm39) |
splice site |
probably null |
|
|
R6875:D5Ertd579e
|
UTSW |
5 |
36,762,001 (GRCm39) |
splice site |
probably null |
|
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,771,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7329:D5Ertd579e
|
UTSW |
5 |
36,773,739 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7464:D5Ertd579e
|
UTSW |
5 |
36,771,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:D5Ertd579e
|
UTSW |
5 |
36,771,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7762:D5Ertd579e
|
UTSW |
5 |
36,770,725 (GRCm39) |
missense |
|
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,772,517 (GRCm39) |
missense |
probably benign |
|
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,772,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8233:D5Ertd579e
|
UTSW |
5 |
36,772,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8281:D5Ertd579e
|
UTSW |
5 |
36,770,664 (GRCm39) |
missense |
|
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,771,621 (GRCm39) |
nonsense |
probably null |
|
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,830,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8771:D5Ertd579e
|
UTSW |
5 |
36,761,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:D5Ertd579e
|
UTSW |
5 |
36,787,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9106:D5Ertd579e
|
UTSW |
5 |
36,773,682 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9121:D5Ertd579e
|
UTSW |
5 |
36,772,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9413:D5Ertd579e
|
UTSW |
5 |
36,772,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:D5Ertd579e
|
UTSW |
5 |
36,759,979 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9715:D5Ertd579e
|
UTSW |
5 |
36,787,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9723:D5Ertd579e
|
UTSW |
5 |
36,772,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF022:D5Ertd579e
|
UTSW |
5 |
36,772,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:D5Ertd579e
|
UTSW |
5 |
36,771,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:D5Ertd579e
|
UTSW |
5 |
36,773,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:D5Ertd579e
|
UTSW |
5 |
36,772,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGTCTGGCAAATGGTTG -3'
(R):5'- AGACTGGCTGTGCTTTCAATG -3'
Sequencing Primer
(F):5'- GGTTAGGGTTAGGCAGATCC -3'
(R):5'- GGCTGTGCTTTCAATGACAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation